Lipoid Congenital Adrenal Hyperplasia Due to Steroidogenic Acute Regulatory Protein (StAR) Deficiency in a 46,XY Child With a Female Phenotype: A Case Report - Cureus
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Primary adrenal insufficiency in childhood is frequently associated with inherited disorders. Lipoid congenital adrenal hyperplasia due to steroidogenic acute regulatory protein (StAR) deficiency is a rare disorder characterized by impaired mitochondrial cholesterol transfer and deficient adrenal and gonadal steroidogenesis. We report a five-year-old child raised as a girl who had been diagnosed with primary adrenal insufficiency at three months of age and was receiving hydrocortisone and fludrocortisone. Physical examination showed female-appearing external genitalia without virilization and Tanner stage I development. Biochemical evaluation demonstrated markedly elevated adrenocorticotropic hormone with profoundly low morning cortisol and globally reduced steroidogenesis, including low 17-hydroxyprogesterone, androstenedione, dehydroepiandrosterone sulfate, and free testosterone. Karyotyping revealed 46,XY. Anti-Müllerian hormone and inhibin B concentrations were compatible with preserved Sertoli cell secretory activity and supported the presence of testicular tissue despite severely impaired androgen production. A contrast-enhanced abdominal and pelvic magnetic resonance imaging
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